Canonical Allele Identifier: CA367015746

Gene: TWIST1

Linked Data

• dbSNP Id: rs1563160144
• gnomAD v2: 7-19156653-C-G
• gnomAD v4: 7-19117030-C-G
• MyVariant Identifiers: chr7:g.19156653C>G (hg19) ; chr7:g.19156653_19156668delinsGGCCGCCGCTGCTGCT (hg19) ; chr7:g.19117030C>G (hg38) ; chr7:g.19117030_19117045delinsGGCCGCCGCTGCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117030C>G , CM000669.2:g.19117030C>G	GRCh38
NC_000007.13:g.19156653C>G , CM000669.1:g.19156653C>G	GRCh37
NC_000007.12:g.19123178C>G	NCBI36
NG_008114.1:g.5643G>C
NG_008114.2:g.5643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.292G>C MANE Select	ENSP00000242261.5:p.Gly98Arg
ENST00000242261.5:c.292G>C	ENSP00000242261.5:p.Gly98Arg
ENST00000354571.5:c.89G>C
NM_000474.3:c.292G>C	NP_000465.1:p.Gly98Arg
XM_011515496.1:c.292G>C	XP_011513798.1:p.Gly98Arg
NR_149001.1:n.643G>C
NM_000474.4:c.292G>C MANE Select	NP_000465.1:p.Gly98Arg
NR_149001.2:n.607G>C